Child Neurology: Triosephosphate isomerase deficiency
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DOI: 10.1212/wnl.0000000000010745
Abstract: Triosephosphate isomerase (TPI) deficiency is a rare autosomal recessive disease of infancy and childhood classified as a glycolytic enzymopathy. Clinical features include hemolytic anemia, progressive neuromuscular dysfunction, and increased susceptibility to infection with specific pathogenic… read more here.
Keywords: triosephosphate isomerase; deficiency; child neurology; neurology triosephosphate ... See more keywords